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Photo of Katherine Mathews

Katherine Mathews

Professor,  Pediatrics

Contact Information

Phone: +1 319 356 1851
Email: katherine-mathews@uiowa.edu


BS, Psychology, University of Iowa
MD, Medicine, University of Iowa Carver College of Medicine
Residency, Pediatrics, University of Iowa Children's Hospital
Residency, Neurology, University of Iowa Hospitals and Clinics
Fellowship, Child Neurology, University of Iowa Children's Hospital
Fellowship, Genetics, University of Iowa Hospitals and Clinics


Primary: Pediatrics
Secondary: Neurology

Centers and Program Affiliations

Research Interests

pediatrics, genetics, neurology, inherited neurologic disease, facioscapulohumeral muscular dystrophy, neurological disorder, neuromuscular disorder

MeSH Terms from Publications

Research Summary

I am interested in all aspects of Clinical Pediatric Neurology. Particular interests include neuromuscular disorders and the neuropsychological outcome of childhood stroke.

My research career began with using genetic linkage, then a putative mouse model, to identify the gene causing facioscapulohumeral dystrophy. I closed my laboratory in 1998 due to increasing clinical and administrative demands, and my current academic efforts have been focused on improving the quality of care for patients with neuromuscular disease. I have maintained an active interest in the impact of molecular genetics on neuromuscular diseases (diagnosis, pathophysiology and treatment). I have served on NIH and CDC working groups to define the direction of research on neuromuscular disease in the future. I have become increasingly involved in collaborative clinical research efforts, many of which are laying a groundwork for clinical trials.

I am currently a co-PI (with Paul Romitti, PhD) on the Iowa MDSTARnet project, a CDC sponsored, multi-center Duchenne/Becker Muscular Dystrophy surveillance and epidemiology project. I am co-PI on one project of the University of Iowa's NIH funded Wellstone Center, directed by Kevin Campbell, PhD and Steve Moore, MD, PhD. My project involves defining the phenotypes of patients with FRKP mutations and will extend nationwide. This clinical project was a key component of this successful NIH application. I am also the Iowa PI in the United Dystrophinopathy project; a genotype-phenotype study headed by Dr. Kevin Flanigan at the University of Utah and recently funded by the NIH.

Recent Publications

Show publications
  1. Friedreich ataxia clinical outcome measures: natural history evaluation in 410 participants. J Child Neurol 27(9):1152-8, 2012. [PubMed]
  2. Use of complementary and alternative medicine by males with Duchenne or Becker muscular dystrophy. J Child Neurol 27(6):734-40, 2012. [PubMed]
  3. ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome. Nat Genet 44(5):575-80, 2012. [PubMed]
  4. LMNA variants cause cytoplasmic distribution of nuclear pore proteins in Drosophila and human muscle. Hum Mol Genet 21(7):1544-56, 2012. [PubMed]
  5. Infantile onset CMT2D/dSMA V in monozygotic twins due to a mutation in the anticodon-binding domain of GARS. J Peripher Nerv Syst 17(1):132-4, 2012. [PubMed]
  6. Analysis of echocardiograms in a large heterogeneous cohort of patients with friedreich ataxia. Am J Cardiol 109(3):401-5, 2012. [PubMed]
  7. Mortality in Friedreich ataxia. J Neurol Sci 307(1-2):46-9, 2011. [PubMed]
  8. Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene. Hum Mutat 32(3):299-308, 2011. [PubMed]
  9. Myoglobinuria and muscle pain are common in patients with limb-girdle muscular dystrophy 2I. Neurology 76(2):194-5, 2011. [PubMed]
  10. Use of corticosteroids in a population-based cohort of boys with duchenne and becker muscular dystrophy. J Child Neurol 25(11):1319-24, 2010. [PubMed]